Imaging Findings in Neonatal and Pediatric Posterior Reversible Encephalopathy Syndrome (PRES) Differ From Adults.

BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is classically a reversible clinical radiographic syndrome associated with predominantly posterior leukoencephalopathy on neuroimaging. Magnetic resonance imaging (MRI) in adults demonstrates almost universally reversible parietal-occipital disease. We aimed to demonstrate in a cohort of children that "atypical" distribution is expected, acutely and on follow-up. METHODS: A retrospective review of children diagnosed with PRES from 2010 to 2018 at our children's hospital was performed. All had MRI at diagnoses, with over half having follow-up MRIs. Images were reviewed by a neuroradiology-trained pediatric radiologist for confirmation of findings consistent with PRES/identification of involved regions. RESULTS: Nineteen patients (aged zero to 18 years, 53% female) were included. Notably, two were infants. Nearly all had seizures; all had altered mental status and hypertension. Fifteen (84%) had MRI described as "atypical." Distribution of MRI findings was anatomically widespread, including nine with frontal findings. Twelve (63%) had follow-up imaging, of which approximately half remained abnormal. CONCLUSIONS: Pediatric PRES MRI findings were more often atypical at time of diagnosis. Vasogenic edema related to the acute phases of PRES typically resolved; however, follow-up imaging identified new volume loss in the areas affected. Two of our subjects were younger than 13 months, younger than typically described. Our series demonstrates that imaging distribution in children with PRES does not mirror the classical posterior, reversible distribution described in adults and continues the recent trend of identifying PRES in infants.

Phenotypic implications of pathogenic variant types in Pompe disease.

Newborn screening and therapies for Pompe disease (glycogen storage disease type II, acid maltase deficiency) will continue to expand in the future. It is thus important to determine whether enzyme activity or type of pathogenic genetic variant in GAA can best predict phenotypic severity, particularly the presence of infantile-onset Pompe disease (IOPD) versus late-onset Pompe disease (LOPD). We performed a retrospective analysis of 23 participants with genetically-confirmed cases of Pompe disease. The following data were collected: clinical details including presence or absence of cardiomyopathy, enzyme activity levels, and features of GAA variants including exon versus intron location and splice site versus non-splice site. Several combinations of GAA variant types for individual participants had significant associations with disease subtype, cardiomyopathy, age at diagnosis, gross motor function scale (GMFS), and stability of body weight. The presence of at least one splice site variant (c.546 G > C/p.T182 = , c.1076-22 T > G, c.2646 + 2 T > A, and the classic c.-32-13T > G variant) was associated with LOPD, while the presence of non-splice site variants on both alleles was associated with IOPD. Enzyme activity levels in isolation were not sufficient to predict disease subtype or other major clinical features. To extend the findings of prior studies, we found that multiple types of splice site variants beyond the classic c.-32-13T > G variant are often associated with a milder phenotype. Enzyme activity levels continue to have utility for supporting the diagnosis when the genetic variants are ambiguous. It is important for newly diagnosed patients with Pompe disease to have complete genetic, cardiac, and neurological evaluations.

Bilateral Cerebral Hyperperfusion Syndrome Following Carotid Artery Stenting in Stroke - A Case Report.

BACKGROUND: Revascularization of the symptomatic carotid artery is performed with endarterectomy or stenting. Rarely, patients may develop cerebral hyperperfusion syndrome (CHS) following revascularization. This usually occurs in the cerebral hemisphere ipsilateral to revascularized carotid stenosis. CHS rarely involves the contralateral hemisphere. OBJECTIVE: To present a case of CHS involving bilateral cerebral hemispheres following carotid artery stenting in acute ischemic stroke. CASE DESCRIPTION: A 66-year-old woman presented with right side weakness and aphasia. National Institutes of Health stroke scale score was 27. CT angiogram/perfusion showed high grade left internal carotid artery (ICA) stenosis, left middle cerebral artery (MCA) occlusion, and increased time to peak in left MCA territory. She underwent mechanical thrombectomy with complete reperfusion. Left carotid artery stenting was performed for 85% cervical ICA stenosis with thrombus. She neurologically deteriorated and required intubation after the procedure. Follow-up CT perfusion at 18 hours after thrombectomy showed increased cerebral blood flow and early time to peak in bilateral MCA territories. CT head showed parenchymal hematoma in the left subcortical area with extension to the ventricle. Fluid-attenuated inversion recovery MRI on day 4 showed diffuse white matter hyperintensities in the entire right hemisphere, and left temporal and frontal lobes suggestive of vasogenic edema. CONCLUSION: This case highlights bilateral cerebral hyperperfusion syndrome characterized by neurological worsening, imaging findings of parenchymal hemorrhage, vasogenic edema and increased cerebral blood flow without any new ischemic lesions. The involvement of bilateral hemispheres in the absence of significant contralateral carotid stenosis is unique in this case.

Dilated Cerebral Arteriopathy in Classical Pompe Disease: A Novel Finding.

BACKGROUND: In Pompe disease, glycogen deposition results in an augmentation of blood flow and abnormal remodeling, with resultant weakening of the arterial walls, which may result in pathologic dilatation of the cerebral arteries. This complication is rare in patients with late-onset Pompe disease, but it has not been well-described in infantile-onset Pompe disease. The effect of enzyme replacement therapy on this process is not known. METHODS: We examined clinical and imaging data on two patients who exhibit cerebrovascular arteriopathy: a 14-year-old boy with infantile-onset Pompe disease on enzyme replacement therapy and a 23-year-old woman with late-onset Pompe disease who was also receiving enzyme replacement therapy. RESULTS: Our 14-year-old patient exhibits cerebrovascular arteriopathy, primarily proximal and vertebrobasilar, while the 23-year-old patient has a more diffuse pattern. The 14-year-old patient is unique because cerebral dolichoectasias have not been described in infantile-onset Pompe disease. The 23-year-old patient is notable given the age and history of enzyme replacement therapy since age 15 years. CONCLUSIONS: Dilative cerebral arteriopathy in infantile-onset Pompe disease is novel and similarly atypical is the diffuse vascular dilation seen in our young patient with late-onset Pompe disease, both receiving enzyme replacement therapy. We should be cognizant of the risk of cerebrovascular disease in Pompe disease regardless of the disease variant and enzyme replacement therapy status.

Self-expanding metallic stents for palliation and as a bridge to minimally invasive surgery in colorectal obstruction.

BACKGROUND AND OBJECTIVES: Acute colorectal obstruction is a potentially life-threatening emergency that requires immediate surgical treatment. Emergency procedures had an associated mortality rate of 10% to 30%. This encouraged development of other options, most notably self-expanding metallic stents. The primary endpoint of this study to is to report our group's experience. METHODS: We performed a retrospective review of 37 patients who underwent self-expanding metallic stent placement for colorectal obstruction between July 2000 and May 2012. Data collected were age, comorbidities, diagnosis, intent of intervention (palliative vs bridge to surgery), complications, and follow-up. RESULTS: The study comprised 21 men (56.76%) and 16 women (43.24%), with a mean age of 67 years. The intent of the procedure was definitive treatment in 22 patients (59.46%) and bridge to surgery in 15 (40.54%). The highest technical success rate was at the rectosigmoid junction (100%). The causes of technical failure were inability of the guidewire to traverse the stricture and bowel perforation related to stenting. The mean follow-up period was 9.67 months. Pain and constipation were the most common postprocedure complications. DISCUSSION: The use of a self-expanding metallic stent has been shown to be effective for palliation of malignant obstruction. It is associated with a lower incidence of intensive care unit admission, shorter hospital stay, lower stoma rate, and earlier chemotherapy administration. Laparoscopic or robotic surgery can then be performed in an elective setting on a prepared bowel. Therefore the patient benefits from advantages of the combination of 2 minimally invasive procedures in a nonemergent situation. Further large-scale prospective studies are necessary.

Imaging findings in human immunodeficiency virus-related pulmonary hypertension: report of five cases and review of the literature.

Five cases of human immunodeficiency virus-related pulmonary hypertension and their imaging manifestations are reported. The radiologic findings vary from mild enlargement of the pulmonary trunk or the central pulmonary arteries at early stages to marked dilatation of the central pulmonary arteries and massive cardiomegaly due to right ventricular and right atrial enlargement at later stages of the disease.

Long-term survival after laparoscopic colon resection for cancer: complete five-year follow-up.

PURPOSE: The role of laparoscopic surgery in the cure of colorectal cancer is controversial. The aim of this study was to evaluate long-term survival after curative, laparoscopic resection of colorectal cancer. Specifically, we wanted to review those patients who now had complete five-year follow-up. METHODS: One hundred two consecutive patients (March 1991 to March 1996) underwent laparoscopic colon resections for cancer at one institution and now have complete five-year survival data. Charts were retrospectively reviewed and results compared with conventional surgery, i.e., open colectomy at our institution, and with the National Cancer Data Base during a similar time period. RESULTS: Fifty-nine male and 43 female patients with an average age of 70 (range, 34-92) years made up the study. Complications occurred in 23 percent of patients, and one patient died (1 percent). Forty-four laparoscopic right colectomies, 2 transverse colectomies, 36 laparoscopic left or sigmoid colectomies, 15 laparoscopic low anterior resections, and 5 laparoscopic abdominoperineal resections were performed. The average number of lymph nodes harvested was 6.6 +/- 0.61 (range, 0-22). Eight cases (7.8 percent) were "converted to open"; i.e., the typical 6-cm extraction site was lengthened to complete mobilization, devascularization, resection, or anastomosis, or a separate incision was required to complete the procedure. There was one extraction-site recurrence and one port-site recurrence; both occurred before the routine use of plastic-sleeve wound protection. The mean follow-up for laparoscopic colon resection patients was 64.4 +/- 2.8 (range, 1-111) months. According to the TNM classification system, 27 patients had Stage I cancer, 37 had Stage II, 23 had Stage III, and 15 had Stage IV. Similar five-year survival rates for laparoscopic and conventional surgery for cancer were noted. The five-year relative survival rates in the laparoscopic colon resection group were 73 percent for Stage I, 61 percent for Stage II, 55 percent for Stage III, and 0 percent for Stage IV. The five-year relative survival rates for the open colectomy and National Cancer Data Base groups were 75 and 70 percent, respectively, for Stage I, 65 and 60 percent for Stage II, 46 and 44 percent for Stage III, and 11 and 7 percent for Stage IV. CONCLUSIONS: Laparoscopic colon resection for cancer is safe and feasible in a private setting. Our data suggest that long-term survival after laparoscopic colon resection for cancer is similar to survival after conventional surgery. Prospective, randomized trials presently under way will likely confirm these results.